regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(917): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 924 | c.*31 others(935): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(917): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 350 | 0.0029 | 924 | c.734 others(941): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923808 | A | ATCGGGTG others(917): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(917): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0288a0001c0001t0002g0259 | 2 | 292 | 0.0069 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(917): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924035 | C | CGGGAACA others(917): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924490 | C | CGAACACT others(917): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924575 | A | AGTGGGTA others(917): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(917): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(917): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924893 | C | CGGGAACA others(917): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0222 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924976 | G | GTAGAAAC others(917): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45924976 | G | GTAGAAAC others(917): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45925140 | T | TGAGGAGA others(917): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 292 | 0.0034 | 924 | c.718 others(941): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(917): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 250 | 0.0040 | 924 | c.309 others(943): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(917): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0009 | a0003c0009t0119 | a0003c0009t0119g0049 | 1 | 210 | 0.0048 | 924 | c.147 others(941): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRB2_chr12_11386540_11400567 | 11393319 | G | GGGCTGGT others(917): Show |
disruptive_inframe_insertion | MODERATE | HG01981.hp2 HG02451.hp1 HG03130.hp2 others(8): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008a0005c0006t0001g0027a0005c0006t0001g0043 | 11 | 410 | 0.0268 | 924 | c.758 others(931): Show |
p.Pro others(937): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 796/1431 | 758/1251 | 253/416 | chr12 | TogoVar | ||
PROZ_chr13_113153648_113177386 | 113162051 | T | TCCCCCCA others(917): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 378 | 0.0027 | 924 | c.260 others(939): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113162260 | C | CTCCTCAC others(917): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 378 | 0.0027 | 924 | c.260 others(939): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130646118 | A | ACCACCTC others(917): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0115 | 1 | 180 | 0.0056 | 924 | c.-35 others(945): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272967 | T | TGAGACCC others(917): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 133 | 0.0075 | 924 | c.438 others(941): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272995 | T | TGAGACCC others(917): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 133 | 0.0075 | 924 | c.438 others(941): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273408 | G | GTCAGGAA others(917): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 133 | 0.0075 | 924 | c.438 others(941): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934721 | G | GCGTTACA others(917): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 434 | 0.0023 | 924 | c.843 others(941): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(917): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01109.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0027a0001c0007t0001g0028 | 4 | 378 | 0.0106 | 924 | c.937 others(941): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SARDH_chr9_133658560_133743352 | 133668881 | T | TCCCTCAC others(917): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03669.hp2 NA19067.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0001 | a0001c0001t0002g0020a0002c0002t0001g0185a0003c0003t0001g0199 | 3 | 262 | 0.0115 | 924 | c.249 others(943): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0270 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0273 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0262 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0116 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0265 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0282 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0092 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0289 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG03710.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105a0002c0002t0002g0106 | 2 | 420 | 0.0048 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19081.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0332a0002c0003t0002g0340 | 2 | 420 | 0.0048 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(917): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0197 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(917): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0275 | 1 | 420 | 0.0024 | 924 | c.107 others(941): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628423 | A | ACGGGGTG others(917): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0019 | a0019c0017 | a0019c0017t0001 | a0019c0017t0001g0221 | 1 | 352 | 0.0028 | 924 | c.299 others(939): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(917): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0001 | a0002c0001t0053 | a0002c0001t0053g0057 | 1 | 352 | 0.0028 | 924 | c.299 others(941): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(917): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 392 | 0.0026 | 924 | c.157 others(943): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(917): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0186 | 1 | 392 | 0.0026 | 924 | c.157 others(943): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(917): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0005 | a0001c0005t0059 | a0001c0005t0059g0173 | 1 | 444 | 0.0023 | 924 | c.227 others(943): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115681 | G | GGCGAAGG others(917): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 444 | 0.0023 | 924 | c.227 others(943): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115765 | G | GGCGAAGG others(917): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0004 | a0004c0006 | a0004c0006t0043 | a0004c0006t0043g0048 | 1 | 444 | 0.0023 | 924 | c.227 others(943): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar |